ClinVar Miner

List of variants reported as likely pathogenic for cone-rod dystrophy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 14q11.2(chr14:21287774-21294830)x3
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_006017.3(PROM1):c.2118del (p.Asn707fs)
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_033100.4(CDHR1):c.10del (p.Cys4fs) rs2132782773
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter) rs1842216995

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